1. Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities 
Kitty K. Lo, Evangelia Karampetsou, Christopher Boustred, Fiona McKay, Sarah Mason, Melissa Hill, Vincent Plagnol, Lyn S. Chitty 
The American Journal of Human Genetics 
Volume 98, Issue 1, Pages (January 2016)
DOI: /j.ajhg
Copyright © 2016 The American Society of Human Genetics Terms and Conditions

2. Figure 1
Plots of Count Ratios Illustrate a Microduplication and a Microdeletion in Sample 1144
Dots are the counts divided by the expected counts of the reference set in 100 kb bins; the solid line is the output from the segmentation algorithm.
(A) Microdeletion event in 18q23.
(B) Microduplication event in 12p13.1.
The American Journal of Human Genetics  , 34-44DOI: ( /j.ajhg )
Copyright © 2016 The American Society of Human Genetics Terms and Conditions

3. Figure 2
Plots of Count Ratios for Sample Illustrate How Variance Decreases as Read Depth Increases
The three different read depths are 7 million (A), 32 million (B), and 71 million (C).
The American Journal of Human Genetics  , 34-44DOI: ( /j.ajhg )
Copyright © 2016 The American Society of Human Genetics Terms and Conditions

4. Figure 3
Comparison of the CNV Positions Derived from Microarray and Our Segmentation Algorithm
(A) Microduplication event of 3.7 Mb in 17p11.2.
(B) Microdeletion event of 4.8 Mb in 8q24.3.
The American Journal of Human Genetics  , 34-44DOI: ( /j.ajhg )
Copyright © 2016 The American Society of Human Genetics Terms and Conditions

5. Figure 4
The Fetal-Fraction Estimates from CNVs Called by Our Pipeline Are Closely Correlated with the Fetal-Fraction Estimates from Chromosome Y
The American Journal of Human Genetics  , 34-44DOI: ( /j.ajhg )
Copyright © 2016 The American Society of Human Genetics Terms and Conditions

6. Figure 5 Test Sensitivity for Deletions of Different Sizes
Deletions of 3 Mb (A) and 10 Mb (B). The dotted line assumes that the counts follow a binomial distribution, which is the theoretical optimal sensitivity that can be achieved with the read-counting method; the solid line assumes that the counts follow a beta-binomial distribution with ϕ = 10−8 for the 3 Mb deletion and ϕ = 3 × 10−8 for the 10 Mb deletion. ϕ is the over-dispersion parameter, and it captures the additional variance in the counts. The ϕ we used in the simulation was derived from our dataset.
The American Journal of Human Genetics  , 34-44DOI: ( /j.ajhg )
Copyright © 2016 The American Society of Human Genetics Terms and Conditions

7. Figure 6
Number of Reads Required for Detecting Each CNV According to Size and Fetal Fraction
Fetal fraction were estimated from chromosome Y for male fetuses or from the CNV detected for female fetuses. Missed detection for female fetuses is not shown in this plot because we were unable to estimate the fetal fraction.
The American Journal of Human Genetics  , 34-44DOI: ( /j.ajhg )
Copyright © 2016 The American Society of Human Genetics Terms and Conditions